title: [Genetic variants associated to male infertility in Mexican patients].
abstract: Recently Mexican Federation of Obstetrics and Gynecology Colleges (Federación Mexicana de Colegios de Obstetricia y Ginecologia, FEMECOG) published the Mexican guideline forthe management of male infertility, which suggests performing genetic laboratory tests as part of diagnosis and management of infertile patients and states that these should receive genetic counseling. This paper reviews the genetic approach proposed by Mexican guideline. A systematic review of medical literature was performed in Pubmed and Web of Knowledge from 1980 to 2012 in order to find reports of genetic variants associated to male infertility in Mexican patients. Also it is discussed the current knowledge of these variants, their clinical implications and finally the guidelines and recommendations for their molecular diagnosis. Most genetic variants in Mexican infertile patients are chromosome abnormalities. In relation to other variants there is only a report of Y chromosome microdeletions, repeated CAG in androgen receptor and more common mutations in CFTR, and other article reporting mutations in CFTR in patients with congenital absence of vas deferens. Little is known about the genetics of Mexican infertile patients apart from chromosome abnormalities. However, the contribution of genetics as etiology of male infertility is taking more relevance and currently the consensual management of infertile male should include the screening of genetic background. This review pretends to be a quick guide for clinicians who want to know about reports of genetic variants related to male infertility in Mexican population and how to approach their diagnosis.
authors.affiliation: Servico de Genética Médica, Centro Médico Nacional 20 de Noviember, ISSSTE, México. rpina.a@hotmail.com
authors.forename: Raúl Eduardo
authors.initials: RE
authors.lastname: Piña-Aguilar
authors.forename: María del Carmen
authors.initials: Mdel C
authors.lastname: Chima-Galán
authors.forename: María de la Concepción A
authors.initials: Mde L
authors.lastname: Yerena-de-vega
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Regalado-Hernández
authors.forename: Cecilia
authors.initials: C
authors.lastname: Sánchez-Guerrero
authors.forename: Liliana
authors.initials: L
authors.lastname: García-Ortiz
authors.forename: Yuritzi
authors.initials: Y
authors.lastname: Santillán-Hernández
authors.forename: Jesús Daniel
authors.initials: JD
authors.lastname: Moreno-García
mesh_terms: D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D003550:Cystic Fibrosis / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008800:Mexico; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development